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List of works by Thomas D Cushion

A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

scientific article

A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse

scientific article published on 02 November 2020

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

article published in 2018

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

scientific article

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

scientific article published on April 2014

GLRB is the third major gene of effect in hyperekplexia.

scientific article published on 25 November 2012

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 28 February 2019

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

scientific article

New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.

scientific article published on 09 October 2013

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

scientific article published on 30 June 2015

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

scientific article

The biophysical, molecular, and anatomical landscape of pigeon CRY4: A candidate light-based quantal magnetosensor

scientific article published on 12 August 2020

The genetics of lissencephaly

scientific article

Tubulin genes and malformations of cortical development

scientific article published on 17 July 2018

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